Results 91 to 100 of about 24,798 (312)

Screening for inborn errors of metabolism : report of a WHO scientific group [meeting held in Geneva from 20 to 26 November 1967]

, 1968
Copy 2 of English, French and Spanish eds.
World Health Organization, WHO Scientific Group on Screening for Inborn Errors of Metabolism   +1 more
core  

Pregnancy‐related effect on elexacaftor, tezacaftor and ivacaftor pharmacokinetics in women with cystic fibrosis

British Journal of Clinical Pharmacology, EarlyView.
Aim The number of pregnancies among women with cystic fibrosis (wwCF) has steadily increased over the past decade. However, the pharmacokinetics (PK) of elexacaftor–tezacaftor–ivacaftor (ETI) during gestation remains uncharacterized, despite its widespread use in this population.
Paulette Magnas, Naim Bouazza, Frantz Foissac, Saïk Urien, Léo Froelicher‐Bournaud, Gabrielle Lui, Victoria Guillemart, Nicolas Carlier, Jennifer Da Silva, Johanna Fesenbeckh, Reem Kanaan, Isabelle Honoré, Clémence Martin, Jean‐Marc Treluyer, Vassilis Tsatsaris, Pierre‐Régis Burgel, Sihem Benaboud   +16 more
wiley   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Modelling Inborn Errors of Metabolism in Zebrafish

, 2014
The majority of human inborn errors of metabolism are fatal multisystem disorders that lack proper treatment and have a poorly understood mechanistic basis.
Russell, C, Wager, K, Mahmood, Fahad, Wager, Kim, Kim Wager, Fahad Mahmood, Russell, Claire, Mahmood, F, Claire Russell   +8 more
core   +1 more source

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, Hatice Serap Sivri   +3 more
core   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia

, 2016
Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
FORMISANO, PIETRO, ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, VILLANI, GUGLIELMO ROSARIO DOMENI, MELIS, DANIELA, Moccia, A., STRISCIUGLIO, PIETRO, Albano, L., Gallo, G., PARENTI, GIANCARLO   +9 more
core  

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

, 2019
Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical abnormalities.
Wassermann, Wyeth W, Bidon-Chanal, Axel, Kulik, Wim, Pérez-Torras, Sandra, Viel-Oliva, Albert, Pastor-Anglada, Marçal, Ross, Colin J, Meinsma, Rutger, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Mata-Ventosa, Aida, van Cruchten, Arno G, van Karnebeek, Clara D M, van Kuilenburg, André B P   +14 more
core   +1 more source

On the importance of including both sexes in animal studies – insights from home‐cage monitoring

Biological Reviews, EarlyView.
ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater, Adam Dušek, Aleksandra Bartelik, Silvia Mandillo, Elisabetta Golini, Mara Rigamonti, Rasneer Sonia Bains, Hamish Forrest, Marion Rivalan, Melissa Long, Anna Kiryk, Lars Lewejohann, Nuno Henrique Franco   +12 more
wiley   +1 more source

From Inflammatory Bowel Disease to Cancer: Gut Microbiota–Immune Microenvironment Crosstalk and Natural Product‐Based Therapeutic Opportunities

Cancer Nexus, EarlyView.
ABSTRACT Inflammatory bowel disease (IBD), primarily Crohn's disease and ulcerative colitis, is a chronic relapsing inflammatory disorder of the gastrointestinal tract and an important risk factor for IBD‐associated cancer. Increasing evidence suggests that gut microbiota dysbiosis, epithelial barrier dysfunction, and immune microenvironment remodeling
Xue Zhang, Chongchong Gao, Rui Jiang, Zijian Wu, Jian Bai   +4 more
wiley   +1 more source